Marshall University
Liberty University
Wayne State University
Western Kentucky University
University of Southern Maine
The University of Maine
University of Tennessee Health Science Center
Eleanor Mann School of Nursing
Inherited Bone-Marrow Failure Syndrome,
2021
University of Southern Maine
Inherited Bone-Marrow Failure Syndrome, James Joseph
Thinking Matters Symposium
The inherited bone marrow failure syndromes are heterogeneous group of rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. This includes disorders associated with pancytopenia, such as fanconi anemia and dyskeratosis congenita, as well as disorders with predominantly, but not exclusively, single lineage cytopenias. These syndromes are associated with mutations in 33 genes, and this has led to further understanding of hematopoiesis and how this is disrupted in patients with bone marrow failure. Other fundamental biological pathways were examined in patients, such as the DNA repair-fa/BRCA pathway. Fanconi anemia/ BRCA is a human tumor suppressor ...
Ciliary Extracellular Vesicles Are Distinct From The Cytosolic Extracellular Vesicles,
2021
Chapman University
Ciliary Extracellular Vesicles Are Distinct From The Cytosolic Extracellular Vesicles, Ashraf M. Mohieldin, Rajasekharreddy Pala, Richard Beuttler, James J. Moresco, John R. Yates Iii, Surya M. Nauli
Pharmacy Faculty Articles and Research
Extracellular vesicles (EVs) are cell‐derived membrane vesicles that are released into the extracellular space. EVs encapsulate key proteins and mediate intercellular signalling pathways. Recently, primary cilia have been shown to release EVs under fluid‐shear flow, but many proteins encapsulated in these vesicles have never been identified. Primary cilia are ubiquitous mechanosensory organelles that protrude from the apical surface of almost all human cells. Primary cilia also serve as compartments for signalling pathways, and their defects have been associated with a wide range of human genetic diseases called ciliopathies. To better understand the mechanism of ciliopathies, it is imperative ...
Dahili Tıp Bilimleri Tanı Ve Tedavi,
2021
Adiyaman University
Dahili Tıp Bilimleri Tanı Ve Tedavi, Hakan Kaya, Hüseyin Kafadar, Rabia Tutuncu Toker, Ali Topak, Kemal Dinç, Bahar Yılmaz Çankaya, Ferit Durankuş, Fatma Kurt Çolak, Attila Önmez, Mehmet Emin Parlak, Selma Eroğlu, Serçin Taşar
Health Sciences
Bu kitapta konjenital ayna hareketi bozukluğu, artrografi öncesi intraartiküler enjeksiyonu, otizm spektrum bozuklukları, genetik danışma, hipoglisemi ve diyabetin akut komplikasyonları, çocuklarda akut otitis media, gerçek nörojenik torasik çıkış sendromu, çocukluk çağı tiroid hastalıkları ele alınmıştır.
Chromosome Xq23 Is Associated With Lower Atherogenic Lipid Concentrations And Favorable Cardiometabolic Indices,
2021
The University of Texas Rio Grande Valley
Chromosome Xq23 Is Associated With Lower Atherogenic Lipid Concentrations And Favorable Cardiometabolic Indices, Pradeep Natarajan, Akhil Pampana, Sarah E. Graham, Sanni Ruotsalainen, Paul S. De Vries, Jai G. Broome, Juan M. Peralta, John Blangero, Joanne E. Curran, James P. Pirruccello
School of Medicine Publications and Presentations
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10-72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 ...
A Conceptual Proposal For The Epigenetically Causal Relationship Between Parental Ptsd And Inflammatory Disease In Post Hoc Offspring.,
2021
The University of Akron
A Conceptual Proposal For The Epigenetically Causal Relationship Between Parental Ptsd And Inflammatory Disease In Post Hoc Offspring., Emma Griffith
Williams Honors College, Honors Research Projects
Could a combat veteran's horrific experiences in early-2000s Afghanistan have a direct, biological impact his now-adult daughter's risk of a heart attack later in her life? This concept would have been unapologetically mocked a mere twenty years ago, and it has only been in the past decade that the new field of epigenetics has revealed a distinct possibility for this event to actually take place—for parents' experiences to profoundly influence the biology of their children. The major objective of this research project is to argue for the legitimacy of this theoretical phenomenon by discussing the latest data ...
Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis,
2021
Assistant Professor, Deanship of Library Affairs, Imam Abdulrahman Bin Faisal University Post Box. No. 1982, Dammam, Saudi Arabia
Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis, Dr. Mirza Muhammad Naseer, Dr. Abu Waris
Library Philosophy and Practice (e-journal)
The present study was conducted to explore various aspects of Cornelia de Lange Syndrome (CdLS) research publications including annual scientific productivity, top contributing authors and their impact, top contributing countries and organizations, most relevant sources of publication, highly cited documents, and most frequently used words. Bibliometric methods were used to investigate these aspects of CdLS research publications. Results of the study disclosed that the annual scientific productivity of CdLS literature is increasing gradually with the passage of time. A. Selicorni contributed the highest number of publications (45) to CdLS literature while I. D. Krantz had the highest impact in the ...
Causes Of Color Blindness: Function And Failure Of The Genes That Detect Color,
2020
Liberty University
Causes Of Color Blindness: Function And Failure Of The Genes That Detect Color, Dylan Taylor
Senior Honors Theses
Color blindness affects nearly 10% of the entire population, with multiple types of color blindness from various genetic mutations. In the following sections, the nature of light and how the human eye perceives light will be discussed. Afterward, the major forms of color blindness and their genetic causes will be considered. Once these genetic causes have been established, the current method for diagnosing color blindness will be investigated, followed by a discussion of the current treatments available to those with color blindness. Finally, a brief discussion will address possible future work for color blindness with the hope of finding better ...
Overcoming Barriers For Sirna Therapeutics: From Bench To Bedside,
2020
Chapman University
Overcoming Barriers For Sirna Therapeutics: From Bench To Bedside, Muhammad Imran Sajid, Muhammad Moazzam, Shun Kato, Kayley Yeseom Cho, Rakesh Kumar Tiwari
Pharmacy Faculty Articles and Research
The RNA interference (RNAi) pathway possesses immense potential in silencing any gene in human cells. Small interfering RNA (siRNA) can efficiently trigger RNAi silencing of specific genes. FDA Approval of siRNA therapeutics in recent years garnered a new hope in siRNA therapeutics. However, their therapeutic use is limited by several challenges. siRNAs, being negatively charged, are membrane-impermeable and highly unstable in the systemic circulation. In this review, we have comprehensively discussed the extracellular barriers, including enzymatic degradation of siRNAs by serum endonucleases and RNAases, rapid renal clearance, membrane impermeability, and activation of the immune system. Besides, we have thoroughly described ...
Epidemiological Implications Of The Genetic Diversification Of Dengue Virus (Denv) Serotypes And Genotypes In Mexico,
2020
The University of Texas Rio Grande Valley
Epidemiological Implications Of The Genetic Diversification Of Dengue Virus (Denv) Serotypes And Genotypes In Mexico, Ericel Hernandez-Garcia, Maria De Lourdes Munoz, Randy E. David, Gerardo Perez-Ramirez, Joel Navarrete-Espinosa, Alvaro Diaz-Badillo, Eduardo Dominguez-De-La-Cruz, Miguel Moreno-Galeana, Cesar Armando Brito-Carreon
School of Medicine Publications and Presentations
Variation and clade shifts in dengue virus (DENV) genotypes are responsible for numerous dengue fever outbreaks throughout Latin America in the past decade. Molecular analyses of dengue serotypes have revealed extensive genetic diversification and the emergence of new genotypes in Brazil (DENV-4 genotype I) and elsewhere in tropical and subtropical America. The goal of the present study is to assess the extent to which the adventitious introduction of DENV genotypes and their increasing genetic diversity affects dengue epidemiology in Mexico. A nuanced sequence inspection and phylogenetic analysis of the C-prM nucleotide region of DENV was performed for specimens collecting in ...
Effects Of Germline And Somatic Events In Candidate Brca-Like Genes On Breast-Tumor Signatures,
2020
Brigham Young University
Effects Of Germline And Somatic Events In Candidate Brca-Like Genes On Breast-Tumor Signatures, Weston R. Bodily, Brian H. Shirts, Tom Walsh, Suleyman Gulsuner, Mary-Claire King, Alyssa Parker, Moom Roosan, Stephen R. Piccolo
Pharmacy Faculty Articles and Research
Mutations in BRCA1 and BRCA2 cause deficiencies in homologous recombination repair (HR), resulting in repair of DNA double-strand breaks by the alternative non-homologous end-joining pathway, which is more error prone. HR deficiency of breast tumors is important because it is associated with better responses to platinum salt therapies and PARP inhibitors. Among other consequences of HR deficiency are characteristic somatic-mutation signatures and gene-expression patterns. The term “BRCA-like” (or “BRCAness”) describes tumors that harbor an HR defect but have no detectable germline mutation in BRCA1 or BRCA2. A better understanding of the genes and molecular events associated with tumors being BRCA-like ...
Immunohistochemical Pattern– A Prognostic Factor For Synchronous Gastrointestinal Cancer,
2020
UNIVERSITY EMERGENCY HOSPITAL BUCHAREST, IVTH DEPARTMENT OF SURGERY, BUCHAREST, ROMANIA
Immunohistochemical Pattern– A Prognostic Factor For Synchronous Gastrointestinal Cancer, Catalin Alius, Catalin Gabriel Cirstoveanu, Cristinel Dumitru Badiu, Valeriu Ardeleanu, Vasile Adrian Dumitru
Journal of Mind and Medical Sciences
Recent advancements in medical genetics and molecular biology are reflected in the modern understanding and approach to colorectal carcinoma (CRC). Understanding the cellular mechanisms and mutational patterns that promote carcinogenesis could enhance the predictive accuracy of the TNM classification. Furthermore, this will allow for a much more documented stratification and tailored oncological treatment. This paper presents an illustrative case of a relatively young patient (50 years old) with no family history of cancer who was diagnosed with four synchronous gastrointestinal (GI) adenocarcinomas displaying a wild type P53, negative BRAF testing, and mutated MLH1 and PMS2 proteins. This case report contributes ...
Genomic Instability And The Oncohistone H3k27m Drive Gliomagenesis In A Murine Model,
2020
University of Tennessee Health Science Center
Genomic Instability And The Oncohistone H3k27m Drive Gliomagenesis In A Murine Model, Lee J. Pribyl
Theses and Dissertations (ETD)
Maintaining genome stability is crucial for human health and it is of particular importance in neural cells during early brain development. Genome maintenance occurs at two broad stages; surveillance during DNA replication and DNA damage repair in differentiating and mature cells. Neural cells are particularly sensitive to DNA strand breaks and defective DNA damage responses can result in detrimental effects on the nervous system, including cancer. Multiple DNA repair pathways play critical roles in preventing DNA damage accumulation in stem and neural progenitor cells. The mechanisms that protect progenitor genomes also suppress DNA mutations that can result in cancer. A ...
Znf410 Represses Fetal Globin By Devoted Control Of Chd4/Nurd [Preprint],
2020
Harvard Medical School
Znf410 Represses Fetal Globin By Devoted Control Of Chd4/Nurd [Preprint], Divya S. Vinjamur, Qiuming Yao, Mitchel A. Cole, Connor Mcguckin, Chunyan Ren, Jing Zeng, Mir Hossain, Kevin Luk, Scot A. Wolfe, Luca Pinello, Daniel E. Bauer
University of Massachusetts Medical School Faculty Publications
Major effectors of adult-stage fetal globin silencing include the transcription factors (TFs) BCL11A and ZBTB7A/LRF and the NuRD chromatin complex, although each has potential on-target liabilities for rational β-hemoglobinopathy therapeutic inhibition. Here through CRISPR screening we discover ZNF410 to be a novel fetal hemoglobin (HbF) repressing TF. ZNF410 does not bind directly to the γ-globin genes but rather its chromatin occupancy is solely concentrated at CHD4, encoding the NuRD nucleosome remodeler, itself required for HbF repression. CHD4 has two ZNF410-bound regulatory elements with 27 combined ZNF410 binding motifs constituting unparalleled genomic clusters. These elements completely account for ...
Natural Variation In A Glucuronosyltransferase Modulates Propionate Sensitivity In A C. Elegans Propionic Acidemia Model,
2020
University of Massachusetts Medical School
Natural Variation In A Glucuronosyltransferase Modulates Propionate Sensitivity In A C. Elegans Propionic Acidemia Model, Huimin Na, Stefan Zdraljevic, Robyn E. Tanny, Albertha J. M. Walhout, Erik C. Andersen
Open Access Publications by UMMS Authors
Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they cannot catabolize propionate, leading to its harmful accumulation. Both the penetrance and expressivity of metabolic disorders can be modulated by genetic background. However, modifiers of these diseases are difficult to identify because of the lack of statistical power for rare diseases in human genetics. Here, we use a model of propionic acidemia in the nematode Caenorhabditis elegans to identify genetic modifiers of propionate sensitivity. Using ...
Inherent Regulatory Asymmetry Emanating From Network Architecture In A Prevalent Autoregulatory Motif,
2020
University of Massachusetts Medical School
Inherent Regulatory Asymmetry Emanating From Network Architecture In A Prevalent Autoregulatory Motif, Zulfikar Ali, Vinuselvi Parisutham, Sandeep Choubey, Robert C. Brewster
Open Access Publications by UMMS Authors
Predicting gene expression from DNA sequence remains a major goal in the field of gene regulation. A challenge to this goal is the connectivity of the network, whose role in altering gene expression remains unclear. Here, we study a common autoregulatory network motif, the negative single-input module, to explore the regulatory properties inherited from the motif. Using stochastic simulations and a synthetic biology approach in E. coli, we find that the TF gene and its target genes have inherent asymmetry in regulation, even when their promoters are identical; the TF gene being more repressed than its targets. The magnitude of ...
Epstein-Barr Virus Genomes Reveal Population Structure And Type 1 Association With Endemic Burkitt Lymphoma,
2020
University of Massachusetts Medical School
Epstein-Barr Virus Genomes Reveal Population Structure And Type 1 Association With Endemic Burkitt Lymphoma, Yasin Kaymaz, Cliff I. Oduor, Ozkan Aydemir, Micah A. Luftig, Juliana A. Otieno, John Michael. Ong'echa, Jeffrey A. Bailey, Ann M. Moormann
UMass Center for Clinical and Translational Science Supported Publications
Endemic Burkitt lymphoma (eBL), the most prevalent pediatric cancer in sub-Saharan Africa, is distinguished by its inclusion of Epstein-Barr virus (EBV). In order to better understand the impact of EBV variation in eBL tumorigenesis, we improved viral DNA enrichment methods and generated a total of 98 new EBV genomes from both eBL cases (n = 58) and healthy controls (n = 40) residing in the same geographic region in Kenya. Using our unbiased methods, we found that EBV type 1 was significantly more prevalent in eBL patients (74.5%) than in healthy children (47.5%) (odds ratio = 3.24, 95% confidence interval ...
Plcg2 Protective Variant P.P522r Modulates Tau Pathology And Disease Progression In Patients With Mild Cognitive Impairment,
2020
University of Cologne
Plcg2 Protective Variant P.P522r Modulates Tau Pathology And Disease Progression In Patients With Mild Cognitive Impairment, Luca Kleineidam, Michael T. Heneka, Alfredo Ramirez
Open Access Publications by UMMS Authors
A rare coding variant (rs72824905, p.P522R) conferring protection against Alzheimer's disease (AD) was identified in the gene encoding the enzyme phospholipase-C-gamma2 (PLCG2) that is highly expressed in microglia. To explore the protective nature of this variant, we employed latent process linear mixed models to examine the association of p.P522R with longitudinal cognitive decline in 3595 MCI patients, and in 10,097 individuals from population-based studies. Furthermore, association with CSF levels of pTau181, total tau, and Abeta1-42 was assessed in 1261 MCI patients. We found that MCI patients who carried the p.P522R variant showed a slower rate ...
A Cas9 With Pam Recognition For Adenine Dinucleotides,
2020
Massachusetts Institute of Technology
A Cas9 With Pam Recognition For Adenine Dinucleotides, Pranam Chatterjee, Jooyoung Lee, Lisa Nip, Sabrina R. T. Koseki, Emma Tysinger, Erik J. Sontheimer, Joseph M. Jacobson, Noah Jakimo
Open Access Publications by UMMS Authors
CRISPR-associated (Cas) DNA-endonucleases are remarkably effective tools for genome engineering, but have limited target ranges due to their protospacer adjacent motif (PAM) requirements. We demonstrate a critical expansion of the targetable sequence space for a type II-A CRISPR-associated enzyme through identification of the natural 5[Formula: see text]-NAAN-3[Formula: see text] PAM preference of Streptococcus macacae Cas9 (SmacCas9). To achieve efficient editing activity, we graft the PAM-interacting domain of SmacCas9 to its well-established ortholog from Streptococcus pyogenes (SpyCas9), and further engineer an increased efficiency variant (iSpyMac) for robust genome editing activity. We establish that our hybrids can target all ...
Combinatorial Pharmacogenomic Algorithm Is Predictive Of Citalopram And Escitalopram Metabolism In Patients With Major Depressive Disorder,
2020
University of Alabama, Birmingham
Combinatorial Pharmacogenomic Algorithm Is Predictive Of Citalopram And Escitalopram Metabolism In Patients With Major Depressive Disorder, Richard C. Shelton, Anthony J. Rothschild
Psychiatry Publications
Pharmacogenomic tests used to guide clinical treatment for major depressive disorder (MDD) must be thoroughly validated. One important assessment of validity is the ability to predict medication blood levels, which reflect altered metabolism. Historically, the metabolic impact of individual genes has been evaluated; however, we now know that multiple genes are often involved in medication metabolism. Here, we evaluated the ability of individual pharmacokinetic genes (CYP2C19, CYP2D6, CYP3A4) and a combinatorial pharmacogenomic test (GeneSight Psychotropic(R); weighted assessment of all three genes) to predict citalopram/escitalopram blood levels in patients with MDD. Patients from the Genomics Used to Improve DEpression ...
Discovery Of Distinct Mechanisms Underlying The Relationship Between Drug Taking And Predisposing Behaviors,
2020
The Jackson Laboratory
Discovery Of Distinct Mechanisms Underlying The Relationship Between Drug Taking And Predisposing Behaviors, Tyler A. Roy
Electronic Theses and Dissertations
Drug addiction is a heritable disease characterized by compulsive drug use. The biological mechanisms driving addiction remain largely unknown.1 Previous studies show shared genetic mechanisms underlying addiction risk phenotypes such as anxiety, depression, and novelty/sensation seeking.2,3 Therefore, high-throughput behavioral screening of these traits in single gene knockout mice can allow for the rapid detection of addiction risk candidate genes and mechanisms. Many of these traits are represented in the Knock-Out Mouse Program (KOMP) phenotyping pipeline. Of the initial two hundred twenty-one strains screened in this program, we tested nineteen phenodeviant knock-out mouse strains with C57BL/6NJ ...
